Adenocarcinoma arising in the multiple heterotopic submucosal glands of the intestine in a Satoyoshi syndrome patient: A case report.

Satoyoshi syndrome is a rare multisystemic disorder of unknown etiology characterized by progressive muscle spasms, alopecia and diarrhea. Multiple protruding lesions with cystic glands, namely gastroenterocolitis cystica polyposa, manifest in the gastrointestinal tract. Since the first report of these lesions in 1977, which was unique to Satoyoshi syndrome, few studies have focused on their role, and the associated clinicopathological features are not well understood. Here, we report a 64-year-old Japanese woman with Satoyoshi syndrome who presented with multiple polypoid lesions in the stomach, duodenum, jejunum, ileum and colon. Histologically, the polypoid lesions in the intestine comprised multiple heterotopic submucosal glands containing cystically dilated glands and smooth muscle fibers in the lamina propria mucosa and/or submucosa. Additionally, we observed stromal changes, such as fibrosis, discontinuous and thinning muscularis mucosae, and diffuse neural fiber proliferation in the entire intestinal tract. Furthermore, multiple foci of adenocarcinomas were identified within several heterotopic submucosal glands. We hypothesized that multiple heterotopic submucosal glands in the present case corresponded to previously reported gastroenterocolitis cystica polyposa, suggesting that these lesions are essential in the histopathology and are a unique manifestation of Satoyoshi syndrome.

Unique expansion of IL-21+ Tfh and Tph cells under control of ICOS identifies Sjögren's syndrome with ectopic germinal centres and MALT lymphoma.

OBJECTIVES: To explore the relevance of T-follicular-helper (Tfh) and pathogenic peripheral-helper T-cells (Tph) in promoting ectopic lymphoid structures (ELS) and B-cell mucosa-associated lymphoid tissue (MALT) lymphomas (MALT-L) in Sjögren's syndrome (SS) patients. METHODS: Salivary gland (SG) biopsies with matched peripheral blood were collected from four centres across the European Union. Transcriptomic (microarray and quantitative PCR) analysis, FACS T-cell immunophenotyping with intracellular cytokine detection, multicolor immune-fluorescence microscopy and in situ hybridisation were performed to characterise lesional and circulating Tfh and Tph-cells. SG-organ cultures were used to investigate functionally the blockade of T-cell costimulatory pathways on key proinflammatory cytokine production. RESULTS: Transcriptomic analysis in SG identified Tfh-signature, interleukin-21 (IL-21) and the inducible T-cell co-stimulator (ICOS) costimulatory pathway as the most upregulated genes in ELS+SS patients, with parotid MALT-L displaying a 400-folds increase in IL-21 mRNA. Peripheral CD4+CXC-motif chemokine receptor 5 (CXCR5)+programmed cell death protein 1 (PD1)+ICOS+ Tfh-like cells were significantly expanded in ELS+SS patients, were the main producers of IL-21, and closely correlated with circulating IgG and reduced complement C4. In the SG, lesional CD4+CD45RO+ICOS+PD1+ cells selectively infiltrated ELS+ tissues and were aberrantly expanded in parotid MALT-L. In ELS+SG and MALT-L parotids, conventional CXCR5+CD4+PD1+ICOS+Foxp3- Tfh-cells and a uniquely expanded population of CXCR5-CD4+PD1hiICOS+Foxp3- Tph-cells displayed frequent IL-21/interferon-γ double-production but poor IL-17 expression. Finally, ICOS blockade in ex vivo SG-organ cultures significantly reduced the production of IL-21 and inflammatory cytokines IL-6, IL-8 and tumour necrosis factor-α (TNF-α). CONCLUSIONS: Overall, these findings highlight Tfh and Tph-cells, IL-21 and the ICOS costimulatory pathway as key pathogenic players in SS immunopathology and exploitable therapeutic targets in SS.

Ectopic brown adipose tissue formation within skeletal muscle after brown adipose progenitor cell transplant augments energy expenditure.

Brown adipose tissue (BAT) thermogenesis increases energy expenditure (EE). Expanding the volume of active BAT via transplantation holds promise as a therapeutic strategy for morbid obesity and diabetes. Brown adipose progenitor cells (BAPCs) can be isolated and expanded to generate autologous brown adipocyte implants. However, the transplantation of brown adipocytes is currently impeded by poor efficiency of BAT tissue formation in vivo and undesirably short engraftment time. In this study, we demonstrated that transplanting BAPCs into limb skeletal muscles consistently led to the ectopic formation of uncoupling protein 1 (UCP1)+pos adipose tissue with long-term engraftment (>4 mo). Combining VEGF with the BAPC transplant further improved BAT formation in muscle. Ectopic engraftment of BAPC-derived BAT in skeletal muscle augmented the EE of recipient mice. Although UCP1 expression declined in long-term BAT grafts, this deterioration can be reversed by swimming exercise because of sympathetic activation. This study suggests that intramuscular transplantation of BAPCs represents a promising approach to deriving functional BAT engraftment, which may be applied to therapeutic BAT transplantation and tissue engineering.-Liu, Y., Fu, W., Seese, K., Yin, A., Yin, H. Ectopic brown adipose tissue formation within skeletal muscle after brown adipose progenitor cell transplant augments energy expenditure.

Respiratory epithelial cysts of the orbit.

To describe post-traumatic and congenital respiratory epithelial cysts in the orbit, which are rare lesions with only 5 and 13 published cases, respectively. We reviewed all cases of respiratory epithelial cysts diagnosed at three institutions (two tertiary referral hospitals, one private clinic) between 1995 and 2015. We describe 10 cases of post-traumatic respiratory epithelial cyst (age range 23 - 82), presenting a mean of 17.4 years after their original trauma; and 3 congenital cases (age range 17-34). All but one case underwent surgical excision of the cyst and its lining, along with any surgical implant within the cyst. Two were recurrent after incomplete excision. Three presented with acute infection within the cyst. Respiratory epithelial orbital cysts are probably commoner than the paucity of published reports would suggest. Post-traumatic cysts often present many years after trauma, and may become secondarily infected. Complete surgical removal is recommended to prevent future recurrence.

Prevalence and risk factors for heterotopic gastric mucosa of the upper esophagus among men undergoing routine screening colonoscopy.

The prevalence of heterotopic gastric mucosa of the upper esophagus (inlet patch) has a wide range depending on the method and detail of examination. The inlet patch is believed to be a congenital malformation that rarely leads to symptoms. We aimed to quantify the prevalence of the inlet patch in a non-referred population and determine if there are any risk factors or associated symptoms. Men between ages 50 and 79 presenting for routine colonoscopy at two clinical sites were recruited to undergo an upper endoscopy. Endoscopists were prompted to examine for the presence of the inlet patch. Of the 822 enrolled patients, 795 had data regarding the presence of an inlet patch. Of these, 55 (6.9%) had an inlet patch identified. Education was inversely associated (odds ratio [OR] advanced degree vs. high school or less = 0.310; 95% confidence interval [CI] = 0.111, 0.869), and tobacco use was positively associated with the presence of an inlet patch (current vs. never smokers OR = 2.87; 95% CI = 1.23, 6.69; former vs. never smokers OR = 1.93; 95% CI = 0.922, 4.02). No association between the inlet patch and symptoms of heartburn, globus, or dysphagia was found. In a cross-sectional study of colon cancer screenees, inlet patches were common and were not associated with symptoms. Tobacco use appears to be associated with the presence of an inlet patch.

Intentional examination of esophagus by narrow-band imaging endoscopy increases detection rate of cervical inlet patch.

Foci of heterotopic gastric mucosa have been identified at different sites in the human body and the most common location is the proximal esophagus which is referred to as cervical inlet patch (CIP). The true prevalence of CIP varies and it is usually incidental findings during endoscopy. Because CIP is always asymptomatic, it was believed to be of little clinical relevance. However, emerging studies have described the acid-secreting characteristics of heterotopic gastric mucosa and associations of CIP with gastroesophageal reflux disease (GERD). In addition, complications such as stricture, fistula, infection, mucosal hyperplasia, and malignant transformation have been reported. In this study, we investigated the prevalence of CIP, its associations with clinical manifestations, and the effect of intentional screening upper esophagus by magnifying endoscopy-narrow-band imaging (ME-NBI) system. Consecutive healthy adults who underwent panendoscopy were separated into two groups. Patients in group I (n = 471) were examined by an endoscopist who intended to find CIPs by ME-NBI. Patients in group II (n = 428) were examined by two endoscopists who were unaware of the study and performed white-light imaging endoscopy. Participants provided questionnaires on GERD-related symptoms. Higher CIP prevalence (11.7% vs. 1.9%, P < 0.0001) and longer duration of esophageal examination (mean ± standard deviation, 17.50 ± 12.40 vs. 15.24 ± 10.78 seconds, P = 0.004) were noted in group I than in group II. Analyzing group I patients revealed the higher prevalences of reflux symptoms (32.7% vs. 18.3%, P = 0.013) and erosive esophagitis (43.6% vs. 25.5%, P = 0.005) in patients with CIP than in those without. CIP was not associated with globus or dysphagia symptoms. More small CIPs (< 5 mm) were detected by ME-NBI than by white-light imaging (85.3% vs. 41.4%, P = 0.001). In conclusion, CIP prevalence was not low under intentional ME-NBI examination of the upper esophagus. The clinical relevance of CIP and its association with GERD require further investigation.

Thoracic cord herniation and associated intra-operative nuances: a report.

BACKGROUND: Thoracic cord herniation is a well-established entity in the literature. Majority of the published literature deals with its surgical management in terms of "mere" detethering of cord. However, not much is written about the degree of herniation and ectopic cord tissue and its management. A 58-year-old male presented to us with progressive difficulty in walking. Imaging revealed a cord herniation at T7-8 level. Surgical detethering was planned. However, a significant amount of "ectopic" cord tissue was found outside the dural defect intra-operatively. Simple detethering and repositioning was difficult. Hence, the ectopic tissue was excised under neuro-physiologic monitoring and no major change was recorded intra-operatively/post-operatively. CONCLUSIONS: Thoracic cord herniation surgery may be more than simple detethering and cord repositioning. If encountered in similar situations intra-operatively, surgeons should be able to excise ectopic tissue without grave post-operative deficits. Neuronal plasticity probably plays an important role in the pathophysiology of long-standing cord herniation.

Onychoheterotopia Due to a Traumatically Transplanted Nail in a Child.

Onychoheterotopia is a rare condition characterized by ectopic nail tissue growth. It is a digital mass that is commonly misdiagnosed. We describe a 6-year-old girl who presented with onychoheterotopia after trauma to the digit. Her onychoheterotopia was incorrectly diagnosed as a common wart. It is important to include onychoheterotopia in the differential diagnosis of digital masses, especially in the setting of previous traumatic injury.

Naso-oropharyngeal choristoma (hairy polyps): an overview and current update on presentation, management, origin and related controversies.

This review presents a comprehensive and updated overview of bigerminal choristomas (hairy polyps) of naso-oropharynx/oral cavity, and discusses the controversies related to nosology and origin from a clinico-embryologic perspective. English-language texts of the last 25 years (January 1989-January 2014) were collected from the PubMed/MEDLINE database using the given keywords. Of the 330 records, 64 full-text articles (mostly case reports/series) were selected, incorporating clinical data from 78 patients, after screening through duplicates and the given exclusion criteria. With the available evidence, hairy polyps appear more common than generally believed, and are increasingly being recognized as an important, often-missed cause of respiratory distress and feeding difficulty in neonates and infants. Such a child without any apparent cause should be examined with flexible nasopharyngoscope to specifically look for hairy polyps which might be life-threatening, especially when small. The female preponderance as believed today has been found to be an overestimation in this review. These lesions are characteristically composed of mature ectodermal and mesodermal tissue derivatives presenting as heterotopic masses, hence termed choristoma. However, little is known about their origin, and whether they are developmental malformations or primitive teratomas is debatable. Involvement of Eustachian tube and tonsils as predominant subsites and the speculated molecular embryogenesis link hairy polyps to the development of the first and second pharyngeal arches. They are exceptionally rare in adults, but form a distinct entity in this age-group and could be explained as delayed pluripotent cell morphogenesis or focal neoplastic malformations, keeping with the present-day understandings of the expanded "teratoma family".

History, pelvic examination findings and mobility of ovaries as a sonographic marker to detect pelvic adhesions with fixed ovaries.

AIM: To compare the performance of history and examination findings combined with transvaginal ultrasound (TVS) 'soft marker' evaluation of ovarian mobility for the prediction of fixed ovaries secondary to endometriosis at laparoscopy. METHODS: This was a prospective observational study performed at the University Gynecology unit, National Hospital of Colombo Sri Lanka. Women who were scheduled for laparoscopic assessment of their pelvis to investigate subfertility or chronic pelvic pain were enrolled. All women underwent history evaluation for dysmenorrhea and dyspareunia, vaginal examination and detailed presurgical TVS. TVS was used to assess 'soft marker' of ovarian mobility. 'Fixed' ovaries on ultrasound were defined as one or other of the ovaries being fixed or adherent to the internal iliac artery or pelvic sidewall laterally or to the uterus medially. These findings were compared with 'fixed' ovaries confirmed at laparoscopy. RESULTS: A total of 106 patients were analyzed. Mean age was 33.3 years (standard deviation, 5.1). Sensitivity, specificity, positive and negative predictive values of each of the screening methods against laparoscopy in detecting endometriosis were as follows: dyspareunia, 45.9%, 76.8%, 51.5% and 72.6%; dysmenorrhea, 75.7%, 69.6%, 57.1% and 84.2%; positive vaginal examination, 73%, 88.4%, 77.1% and 85.9%; fixed ovaries with TVS, 78.4%, 94.2%, 87.9% and 89%; and a combination of history, examination findings and detection of fixed ovaries in TVS, 91.9%, 60.9%, 55.7% and 93.3%, respectively. CONCLUSION: A combination of clinical and TVS-based 'soft marker' of ovarian mobility provides a valid method for identifying fixed ovaries secondary to endometriosis.

Congenital respiratory epithelial cysts of the orbit: a rare cause of major orbital impairment.

Congenital respiratory epithelial cysts of the orbit are rare lesions with few reported cases. Extensive disease may cause an orbital apex syndrome, resulting in significant visual loss. Two such cases were described, the risk factors associated with surgical morbidity were identified, and the embryological origins of these cysts were reviewed.

Heterotopic pancreas in excluded stomach diagnosed after gastric bypass surgery.

BACKGROUND: Heterotopic pancreas is defined as finding of pancreatic tissue without anatomic and vascular continuity with the normal pancreas. Heterotopic pancreas is a rare condition difficult to diagnose and with controversial clinical management. CASE PRESENTATION: We describe a 43 year old female patient previously submitted to laparoscopic gastric bypass for primary treatment of morbid obesity; 5 years later, the patient was discovered to have a mass in the antrum of the excluded stomach that was found to be heterotopic pancreatic tissue. Before gastric bypass surgery, the presence of the pancreatic mass in the gastric wall was unnoticed in the imagiologic records. CONCLUSION: This is the first reported case of pancreatic heterotopy diagnosed in the excluded stomach after gastric bypass. A putative role of incretin hormones in mediating pancreatic cell hyperplasia of heterotopic pancreatic remnants should be considered an additional hypothesis that requires further research.

Perihepatic abscess caused by dropped appendicoliths following laparoscopic appendectomy: sonographic findings.

We report the case of a 6-year-old girl presenting with acute appendicitis complicated by perforated appendix, followed by perihepatic abscess associated with ectopic appendicoliths. CT findings were initially suspicious for an intrahepatic abscess with internal calcifications. However, on sonography the abscess appeared to be in a perihepatic location. Perihepatic abscess associated with a dropped or retained appendicolith has been rarely reported. Awareness of the possibility of a perihepatic abscess as a complication of laparoscopic appendectomy and use of sonography should result in optimal management of this rare complication.

[Subcutaneous and intramuscular heterotopic calcification of the neck 42 years after radiotherapy]. / Subcutan és intramuscularis heterotop kalcifikáció a nyakon 42 évvel a sugárkezelést követoen.

Radiotherapy-induced heterotopic tissue calcification is an exceedingly rare complication in the head and neck region. We report a patient with extensive, radiotherapy-induced, combined subcutaneous and intramuscular, heterotopic calcification of the neck. An 80-year-old male presented with a 2-month history of severe dysphagia and a painful ulcer on the neck 42 years after salvage total laryngectomy following radiotherapy (total dose: 80 Gy) for a T3N0M0 glottic squamous cell carcinoma. We excluded recurrence or secondary malignancy by biopsy and performed computed tomography, which revealed subcutaneous and intramuscular calcification in the area of the skin ulcer and close to the hypopharyngeal wall, moreover, total occlusion of the common carotid and vertebral arteries bilaterally. Surgical correction involved removing the calcified lesions and closure using fasciocutaneous flap transposition. The patient has been asymptomatic for the past 48 months. Radiotherapy plays an essential role in the treatment of patients with head and neck squamous cell carcinoma. Distorted postoperative anatomy, excessive scar formation, radiotherapy-induced fibrosis as well as skin and subcutaneous tissue calcification can present as atypical findings. Orv Hetil. 2023; 164(10): 383-387.

Normal hearing after trauma with completely ectopic incus -- how possible?.

OBJECTIVES: To report the rare case of a patient with complete incus dislocation after trauma showing normal hearing. METHODOLOGY: Physical examination, audiometry, CT of temporal bone, and detection during operation. RESULTS: The incus had become remotely located in the mastoid cavity, but the patient showed normal hearing because fibrous connections had preserved bony continuity. CONCLUSION: This case demonstrates that disruption of the ossicular chain does not always require ossicular reconstruction.

Pulmonary glial heterotopia in a child diagnosed with fanconi anemia and epilepsy.

BACKGROUND: Pulmonary glial heterotopia is rare and its pathogenesis is still obscure as for Fanconi anemia (FA). OBSERVATION: This study describes a very rare case of an incidental finding of pulmonary glial heterotopia in a girl diagnosed with FA, epilepsy, and mental retardation. Before this report, the association of pulmonary glial heterotopia and FA had not been described. CONCLUSIONS: The unique finding in this patient could be a link between FA and abnormal cell migration, but it certainly teaches us that there is still much to be learnt of the molecular mechanisms underlying the clinical manifestations in FA.

[Gastric heterotopia: clinical and histological study of 12 cases]. / Hétérotopie gastrique: étude anatomo-clinique de 12 cas

BACKGROUND: Gastric heterotopia is a rare congenital lesion, described everywhere in the body, but involves predominantly the digestive tract. Diagnosis is based on histologic examination and requires the presence of gastric mucosa, especially fundic. This diagnosis is usually easy, but sometimes it can be misinterpreted as gastric metapalsia . This latter is an acquired and frequent lesion of the gastrointestinal tract. AIMS: To determine the relationship between this affection and the other digestive malformations, to describe the clinical characteristics and the evolution of this lesion and to discuss the differential diagnosis particularly the gastric metaplasia. METHODS: Twelve cases of gastric heterotopia were diagnosed over a 12-year period at Habib Thameur Hospital. Clinical data was obtained and all the slides were reviewed. RESULTS: Nine cases were found in Meckel's diverticulum (75%), one case in intestinal duplication, one case in the esophagus and another in the gallbladder. The mean age of patients at diagnosis was 16 years with a peak of incidence at the first decade of life. Intestinal obstruction and digestive bleeding were the most presenting features. Heterotopic gastric mucosa complicates other congenital anomalies such as common mesentery, vestigial polyp of the liver, appendiceal agenesis and heterotopic pancreas. Differential diagnosis consists in gastric metaplasia was found extensively in a patient with Crohn's disease associated with Meckel's diverticulum. CONCLUSION: Gastric heterotopia is frequently associated with congenital anomalies especially with Meckel's diverticulum and digestive duplication. Diagnosis relies on histology, mainly on finding heterotopic fundic glands in normal organizational structure. Sometimes, differentiating between gastric heterotopia and gastric metaplasia requires clinical confrontation.

Development of a Meniscal Ossicle After a Meniscal Root Repair Augmented with Bone Marrow Aspirate Concentrate: A Case Report.

CASE: A 17-year-old boy had persistent knee pain 1 year after medial meniscal root repair augmented with bone marrow aspirate concentrate injection. Radiographs and magnetic resonance imaging (MRI) demonstrated an intrameniscal ossicle which was not present on MRI performed before 6 months. He underwent arthroscopic excision of the meniscal ossicle. At the 7-month follow-up, he had complete relief of his pain. CONCLUSIONS: It is possible that the meniscal ossicle developed because of osteoinductive cells and cytokines from the injected bone marrow or the drill hole for root repair and should be considered as a possible complication of this procedure.

An Uncommon Focal Liver Lesion: Intrahepatic Splenosis.

Multiple focal liver lesions were incidentally detected in a patient screened by ultrasound for a recent diagnosis of lower limb deep vein thrombosis, for which anticoagulation had been initiated. Past medical history reported a post-traumatic splenectomy 15 years before. Magnetic resonance imaging (MRI) and contrast-enhanced ultrasound (CEUS) showed a subcapsular lesion in liver segment 5 consistent with focal nodular hyperplasia (FNH) and multiple other nodules, with a different pattern from the former, judged as probable hepatic adenomas by MRI but probable hemangiomas by CEUS (hyperenhancement in the late phase). Therefore, another MRI with gadoxetic acid was performed. The diagnosis of FNH was confirmed. The other lesions showed an hyperenhancing pattern in the arterial phase with progressive wash-out in the portal and late phase and marked hypointensity in the hepatobiliary phase. This pattern apparently confirmed the hypothesis of adenomas, with a potential risk of malignancy due to the hepatobiliary phase pattern and the recent occurrence of deep vein thrombosis. Due to the inherent risk of spontaneous bleeding from subcapsular adenomas increased by the ongoing anticoagulant therapy and the recommendation of international guidelines to resect adenomas in male subjects, the patient was directly offered surgery. Pathology of the resected specimens confirmed one FNH but demonstrated intrahepatic splenosis for all other lesions. This case suggests that in the setting of previous splenic trauma any discrepancy between MRI and CEUS findings should lead one to consider also the hypothesis of intrahepatic splenosis.